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SLC6A8 (human)

Overview SLC6A8 Required for the uptake of creatine in muscles and brain. Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS). XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB. Protein type: Transporter; Motility/polarity/chemotaxis; Membrane protein, integral Cellular Component: integral to plasma membrane; plasma membrane; integral to membrane Molecular Function: creatine transporter activity; neurotransmitter:sodium symporter activity; creatine:sodium symporter activity; choline transmembrane transporter activity Biological Process: muscle contraction; transport; creatine metabolic process; creatine transport Reference #:  P48029 (UniProtKB) Alt. Names/Synonyms: Creatine transporter 1; creatine transporter SLC6A8; CRT; CRTR; CT1; MGC87396; SC6A8; SLC6A8; Sodium- and chloride-dependent creatine transporter 1; solute carrier family 6 (neurotransmitter transporter, creatine), member 8; Solute carrier family 6 member 8 Gene Symbols: SLC6A8 Molecular weight: 70,523 Da Basal Isoelectric point: 6.02  Predict pI for various phosphorylation states

Select Structure to View Below SLC6A8

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 300036 300352  |  Source  |  UCSD-Nature  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K4-u	____MAKksAENGIy
0	1		S5-p	___MAKksAENGIyS
0	47		Y11-p	ksAENGIySVSGDEk
0	1		K18-a	ySVSGDEkkGPLIAP
0	2		K18-u	ySVSGDEkkGPLIAP
0	1		K19-a	SVSGDEkkGPLIAPG
0	1		K19-u	SVSGDEkkGPLIAPG
0	1		K33-a	GPDGAPAkGDGPVGL
0	2		K33-u	GPDGAPAkGDGPVGL
0	1		T42-p	DGPVGLGtPGGRLAV
0	2		K217-u	VIEFWENkVLRLSGG
0	1		T617-p	DADVRGLttLtPVsE
0	1		T618-p	ADVRGLttLtPVsEs
0	5		T620-p	VRGLttLtPVsEssk
0	4		S623-p	LttLtPVsEsskVVV
0	1		S625-p	tLtPVsEsskVVVVE
0	1		S626-p	LtPVsEsskVVVVES
0	1		K627-u	tPVsEsskVVVVESV

	mouse
K4	____MAKKSAENGIy
S5	___MAKKSAENGIyS
Y11-p	KSAENGIySVSGDEk
K18	ySVSGDEKKGPLIVS
K18-u	ySVSGDEkKGPLIVS
K19	SVSGDEkKGPLIVSG
K19	SVSGDEkKGPLIVSG
K33	GPDGAPAKGDGPAGL
K33-u	GPDGAPAkGDGPAGL
A42	DGPAGLGAPGGRLAV
K217-u	VIEFWENkVLRLSTG
T622	DADVRGLTTLtPVsE
T623	ADVRGLTTLtPVsES
T625-p	VRGLTTLtPVsESSK
S628-p	LTTLtPVsESSKVVV
S630	TLtPVsESSKVVVVE
S631	LtPVsESSKVVVVES
K632	tPVsESSKVVVVESV

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